Variant report

Variant	rs75674233
Chromosome Location	chr4:79698029-79698030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr4:79697824-79698648	K562	blood:	n/a	n/a
2	MXI1	chr4:79695648-79698681	IMR90	lung:	n/a	n/a
3	TFAP2C	chr4:79697932-79698514	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr4:79697802-79698458	U87	brain:	n/a	n/a
5	ZBTB7A	chr4:79697382-79698064	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr4:79695712-79698833	K562	blood:	n/a	n/a
7	TAF1	chr4:79697869-79698441	K562	blood:	n/a	n/a
8	MYC	chr4:79695591-79698574	K562	blood:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
9	TBP	chr4:79698022-79698401	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
11	ZBTB7A	chr4:79697773-79698472	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr4:79696144-79698368	GM15510	blood:	n/a	n/a
13	TBP	chr4:79696443-79698343	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr4:79698001-79698433	K562	blood:	n/a	chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698177-79698188 chr4:79698178-79698187
15	POLR2A	chr4:79696044-79699275	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:79696396-79698547	HUVEC	blood vessel:	n/a	n/a
17	RAD21	chr4:79698022-79698506	Hela-S3	cervix:	n/a	n/a
18	SMC3	chr4:79697934-79698454	GM12878	blood:	n/a	n/a
19	UBTF	chr4:79696176-79698607	K562	blood:	n/a	n/a
20	POLR2A	chr4:79696170-79698447	GM18526	blood:	n/a	n/a
21	POLR2A	chr4:79695814-79698408	GM18505	blood:	n/a	n/a
22	MXI1	chr4:79697965-79698491	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:79697782-79698496	HL-60	blood:	n/a	n/a
24	POLR2A	chr4:79697824-79698450	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr4:79697974-79698378	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr4:79698005-79698458	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:79698005-79698073	MCF-7	breast:	n/a	n/a
28	MAX	chr4:79697965-79698491	Hela-S3	cervix:	n/a	chr4:79698179-79698188
29	RCOR1	chr4:79697957-79698404	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr4:79696076-79698466	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr4:79695518-79698666	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:79696114-79698413	K562	blood:	n/a	n/a
33	POLR2A	chr4:79695634-79698859	K562	blood:	n/a	n/a
34	FOS	chr4:79697954-79698386	HUVEC	blood vessel:	n/a	chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698187 chr4:79698177-79698188
35	MTA3	chr4:79697958-79698612	GM12878	blood:	n/a	n/a
36	PML	chr4:79697939-79698575	K562	blood:	n/a	chr4:79698026-79698034 chr4:79698180-79698189
37	HMGN3	chr4:79696839-79698362	K562	blood:	n/a	n/a
38	CCNT2	chr4:79696809-79698067	K562	blood:	n/a	chr4:79697915-79697924 chr4:79697068-79697077
39	TBP	chr4:79696265-79698392	K562	blood:	n/a	n/a
40	SPI1	chr4:79697878-79698373	HL-60	blood:	n/a	chr4:79697980-79697987
41	POLR2A	chr4:79696595-79698323	HepG2	liver:	n/a	n/a
42	MXI1	chr4:79697869-79698419	Hela-S3	cervix:	n/a	n/a
43	SIN3A	chr4:79696626-79698522	H1-hESC	embryonic stem cell:	n/a	chr4:79697629-79697640
44	MAZ	chr4:79696363-79698592	IMR90	lung:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
45	FOS	chr4:79698026-79698366	MCF10A-Er-Src	breast:	n/a	chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698187 chr4:79698177-79698188
46	MAZ	chr4:79696413-79698301	K562	blood:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
47	POLR2A	chr4:79697966-79698496	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:79697961-79698496	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:79696164-79698401	NB4	blood:	n/a	n/a
50	POLR2A	chr4:79696167-79698492	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79522193..79524527-chr4:79697309..79699707,2	MCF-7	breast:
2	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:
3	chr4:79591975..79594296-chr4:79697576..79699186,2	K562	blood:
4	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
5	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
6	chr4:79697362..79698154-chrX:118601587..118602475,2	HCT-116	colon:
7	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
8	chr4:79697257..79699576-chr4:79770892..79773352,2	MCF-7	breast:
9	chr4:79696515..79698358-chr4:79778442..79780983,2	K562	blood:
10	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
11	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
12	chr4:79697991..79698551-chr4:79785291..79786155,2	MCF-7	breast:
13	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:
14	chr4:79557978..79560128-chr4:79697718..79699238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260278	TF binding region
ENSG00000251019	Chromatin interaction
ENSG00000239793	Chromatin interaction
ENSG00000138772	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000005022	Chromatin interaction
ENSG00000224281	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv3358831	chr4:79696153-79699301	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3368249	chr4:79696578-79699076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1792429	chr4:79697116-79704210	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1798320	chr4:79697116-79704210	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1801852	chr4:79697116-79704210	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1802642	chr4:79697116-79704210	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv1802703	chr4:79697116-79704210	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv1833723	chr4:79697116-79704210	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv1833992	chr4:79697116-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1835474	chr4:79697116-79704210	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv1837381	chr4:79697116-79704210	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv1845915	chr4:79697116-79704210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79695800-79698200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr4:79696000-79698400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:79696000-79698800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:79696000-79699000	Active TSS	Hela-S3	cervix
6	chr4:79696000-79699600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:79696000-79699800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:79696200-79698200	Active TSS	Brain Anterior Caudate	brain
9	chr4:79696200-79698200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr4:79696200-79698200	Active TSS	Colonic Mucosa	Colon
11	chr4:79696200-79698200	Active TSS	Duodenum Mucosa	Duodenum
12	chr4:79696200-79698400	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr4:79696200-79698400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:79696200-79698600	Active TSS	Ovary	ovary
15	chr4:79696200-79698800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr4:79696200-79698800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:79696200-79698800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:79696200-79698800	Active TSS	Aorta	Aorta
19	chr4:79696200-79698800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:79696200-79698800	Active TSS	A549	lung
21	chr4:79696200-79699000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:79696200-79699200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:79696200-79699200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr4:79696200-79699200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:79696200-79699200	Active TSS	Fetal Kidney	kidney
26	chr4:79696200-79699200	Active TSS	Fetal Muscle Trunk	muscle
27	chr4:79696200-79699200	Active TSS	Fetal Stomach	stomach
28	chr4:79696200-79699200	Active TSS	Psoas Muscle	Psoas
29	chr4:79696200-79699600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:79696200-79699600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr4:79696200-79699600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:79696200-79699800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:79696200-79699800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr4:79696200-79699800	Active TSS	Thymus	Thymus
35	chr4:79696200-79699800	Active TSS	NHDF-Ad	bronchial
36	chr4:79696200-79700200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:79696200-79700800	Active TSS	Rectal Smooth Muscle	rectum
38	chr4:79696400-79698200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:79696400-79698200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:79696400-79698200	Active TSS	Brain Substantia Nigra	brain
41	chr4:79696400-79698400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:79696400-79698400	Active TSS	Colon Smooth Muscle	Colon
43	chr4:79696400-79698400	Active TSS	Fetal Lung	lung
44	chr4:79696400-79698600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:79696400-79698600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:79696400-79698600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:79696400-79698600	Active TSS	Esophagus	oesophagus
48	chr4:79696400-79698600	Active TSS	Gastric	stomach
49	chr4:79696400-79698600	Active TSS	Left Ventricle	heart
50	chr4:79696400-79698600	Active TSS	Lung	lung

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